Diseases of the nuclear envelope

Cold Spring Harb Perspect Biol. 2010 Feb;2(2):a000760. doi: 10.1101/cshperspect.a000760.

Abstract

In the past decade, a wide range of fascinating monogenic diseases have been linked to mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. These diseases include dilated cardiomyopathy with variable muscular dystrophy, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome. Several diseases are also caused by mutations in genes encoding B-type lamins and proteins that associate with the nuclear lamina. Studies of these so-called laminopathies or nuclear envelopathies, some of which phenocopy common human disorders, are providing clues about functions of the nuclear envelope and insights into disease pathogenesis and human aging.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Nucleus / metabolism*
  • DNA Mutational Analysis
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Lamin Type A / metabolism
  • Lamin Type A / physiology*
  • Models, Biological
  • Models, Genetic
  • Mutation*
  • Nuclear Envelope / pathology*
  • Nuclear Lamina / metabolism
  • Phenotype
  • Progeria / genetics

Substances

  • Lamin Type A